In a 62-year-old white woman, submitted to preoperative evaluation for facectomy, urinary alterations were detected. The diagnosis established included left-sided kidney stones and homolateral exclusion. At pre-nephrectomy, interstitial widespread lung disease and thoracic adenopathy were evidenced and their investigation was postponed to after surgery. In the removed kidney, non cascous epithelioid granulomas were found. Later, transbronchial biopsy disclosed this same aspect. The patient was treated with methylprednisolone and presented slight pulmonary improvement, though no amelioration in renal function occurred. Final diagnosis was sarcoidosis with lung, thoraco-lymphatic and renal involvement.

Keywords: Sarcoidosis. Kidney failure. Pulmonary sarcoidosis.

Sarcoidosis is a multisystem inflammatory disorder of unknown cause. It most commonly affects the pulmonary system but can also affect the musculoskeletal system, albeit less frequently. In patients with sarcoidosis, rheumatic involvement is polymorphic. It can be the presenting symptom of the disease or can appear during its progression. Articular involvement is dominated by nonspecific arthralgia, polyarthritis, and Löfgren's syndrome, which is defined as the presence of lung adenopathy, arthralgia (or arthritis), and erythema nodosum. Skeletal manifestations, especially dactylitis, appear mainly as complications of chronic, multiorgan sarcoidosis. Muscle involvement in sarcoidosis is rare and usually asymptomatic. The diagnosis of rheumatic sarcoidosis is based on X-ray findings and magnetic resonance imaging findings, although the definitive diagnosis is made by anatomopathological study of biopsy samples. Musculoskeletal involvement in sarcoidosis is generally relieved with nonsteroidal anti-inflammatory drugs or corticosteroids. In corticosteroid-resistant or -dependent forms of the disease, immunosuppressive therapy, such as treatment with methotrexate or anti-TNF-, is employed. The aim of this review was to present an overview of the various types of osteoarticular and muscle involvement in sarcoidosis, focusing on their diagnosis and management.

Keywords: Sarcoidosis; Joints; Muscles; Bone and Bones.

The authors report a typical case of pediatric sarcoidosis presenting a granulomatous pulmonary disease with systemic impairment, reviewing clinical, diagnostic, and particular aspects of the disease in this age group, with emphasis on the difficulty to differentiate its diagnosis from that of tuberculosis.

Keywords: Sarcoidosis. Pulmonary sarcoidosis. Lung diseases.

Objective: To estimate the prevalence of latent Mycobacterium tuberculosis infection (LTBI) in renal transplant recipients and to assess sociodemographic, behavioral, and clinical associations with positive tuberculin skin test (TST) results. Methods: This was a cross-sectional study of patients aged ≥ 18 years who underwent renal transplantation at the Renal Transplant Center of the Federal University of Minas Gerais Hospital das Clínicas, located in the city of Belo Horizonte, Brazil. We included renal transplant recipients who underwent the TST between January 2011 and July 2013. If the result of the first TST was negative, a second TST was administered. Bivariate and multivariate analyses using logistic regression were used to determine factors associated with positive TST results. Results: The sample included 216 patients. The prevalence of LTBI was 18.5%. In the multivariate analysis, history of contact with a tuberculosis case and preserved graft function (estimated glomerular filtration rate ≥ 60 mL/min/1.73 m2) were associated with positive TST results. TST induration increased by 5.8% from the first to the second test, which was considered significant (p = 0.012). Conclusions: The prevalence of LTBI was low in this sample of renal transplant recipients. The TST should be administered if renal graft function is preserved. A second TST should be administered if the first TST is negative.

Keywords: Tuberculosis; Tuberculin test; Immunocompromised host.

Objective: The aim of this study was to use a Serbian-language version of the disease-specific, self-report Sarcoidosis Health Questionnaire (SHQ), which was designed and originally validated in the United States, to assess health status in sarcoidosis patients in Serbia, as well as validating the instrument for use in the country. Methods: This was a cross-sectional study of 346 patients with biopsy-confirmed sarcoidosis. To evaluate the health status of the patients, we used the SHQ, which was translated into Serbian for the purposes of this study. We compared SHQ scores by patient gender and age, as well as by disease duration and treatment. Lower SHQ scores indicate poorer health status. Results: The SHQ scores demonstrated differences in health status among subgroups of the sarcoidosis patients evaluated. Health status was found to be significantly poorer among female patients and older patients, as well as among those with chronic sarcoidosis or extrapulmonary manifestations of the disease. Monotherapy with methotrexate was found to be associated with better health status than was monotherapy with prednisone or combination therapy with prednisone and methotrexate. Conclusions: The SHQ is a reliable, disease-specific, self-report instrument. Although originally designed for use in the United States, the SHQ could be a useful tool for the assessment of health status in various non-English-speaking populations of sarcoidosis patients.

Keywords: Sarcoidosis; Health status; Validation studies; Questionnaires; Self report; Serbia.

Pulmonary cavitation is rather uncommon in patients with sarcoidosis, and aspergilloma is even more uncommon in such cases. Here, we present the case of a 63-year-old female patient with cavitary lung disease who had been under treatment for TB for 9 months. A diagnosis of pulmonary sarcoidosis was established based on the fiberoptic bronchoscopy finding of noncaseating granuloma. Treatment with corticosteroids led to a dramatic improvement in symptoms. While under treatment for sarcoidosis, the patient developed an aspergilloma. She presented immediate skin test reactivity to Aspergillus fumigatus, as well as positivity for A. fumigatus serum precipitins. This is the first reported case of aspergilloma formation in a patient with cavitary sarcoidosis in India.

Keywords: Sarcoidosis, pulmonary; Aspergillosis; Medical records.

Objective: To evaluate pulmonary function and respiratory muscle strength in chronic renal failure patients, correlating these variables with hemodialysis-related weight fluctuation; to study the correlation between the duration of hemodialysis and potential respiratory alterations. Methods: Seventeen patients (median age, 47 years; interquartile range, 41-52 years), submitted to three weekly hemodialysis sessions for a median of 27 months (interquartile range, 14-55) were evaluated. Twelve of the patients were male. The patients underwent spirometry. Maximal inspiratory pressure (MIP) and maximal expiratory pressure (MEP) were measured prior to and after the first hemodialysis session of the week. Body weight was quantified prior to and after each of the three weekly sessions. Results: Before the first hemodialysis session of the week, 8 patients presented mild restrictive defect, which normalized after the session in 2 of those patients. After dialysis, there was a significant increase in forced vital capacity (p = 0.02) and a significant decrease in body weight (p = 0.0001). Weight fluctuation over 3 days without hemodialysis tended to correlate with the variation in forced vital capacity in the first weekly session (r = 0.47; p = 0.055). Duration of hemodialysis correlated with predialysis MIP (r = −0.3; p = 0.03) and MEP (r = −0.63; p = 0.006). Conclusions: More pronounced weight gain in the interdialytic period is associated with worsening of lung function, which is almost fully reversible by hemodialysis. In addition, longer duration of hemodialysis is associated with decreased respiratory muscle strength.

Keywords: Spirometry; Respiratory muscles/physiopathology; Kidney failure, chronic; Renal dialysis.

Objective: To assess proteinuria in patients with cystic fibrosis (CF), and to correlate proteinuria with genotype, CF-related diabetes and disease severity. Methods: A prospective study was carried out over a six-month period and involving 22 CF patients. After the collection and analysis of 24-h urine samples, the patients were divided into two subgroups: protein excretion < 150 mg/day (low-proteinuria); and protein excretion ≥ 150 mg/day (high-proteinuria). Patient charts were reviewed to obtain data on genotype and CF-related diabetes. Disease severity was assessed based on acute exacerbations in the last six months and FEV1 measured during the study period. To assess the correlation between genotype and proteinuria, the two main mutations (ΔF508 and R334W) were evaluated. Due to the existence of genotype ΔF508/R334W, two categories were created to enable statistical analysis, ΔF508 being evaluated in category 1 and R334W being evaluated in category 2. Results: The ΔF508 mutation tended to be associated with normal protein excretion: 100% of the low-proteinuria subgroup patients were considered ΔF508 in category 1, compared with 86.7% in category 2. Protein excretion tended to be higher in patients with the R334W mutation: 60.0% of the high-proteinuria subgroup patients were considered R334W in category 1, compared with 80.0% in category 2 (p = 0.009 and p = 0.014, respectively). No significant association was found for any of the other variables. Conclusions: The results suggest that genotype is associated with renal phenotype, depending on the mechanism by which the genotype alters the function of the cystic fibrosis transmembrane conductance regulator gene.

Keywords: Proteinuria; Cystic fibrosis; Genotype.

Although hemophagocytic syndrome is a rare clinical condition, it is associated with high mortality and the number of cases described in the literature has progressively increased. The diagnosis of hemophagocytic syndrome is made on the basis of a finding of hemophagocytosis. Sarcoidosis is a highly prevalent disease whose course and prognosis might correlate with the initial clinical presentation and the extent of the disease. We report the case of a patient with long-standing sarcoidosis who presented with intermittent fever and fatigue. The diagnosis of hemophagocytic syndrome was made by bone marrow aspiration, and specific treatment was ineffective. This is the third case of sarcoidosis-related hemophagocytic syndrome reported in the literature and the first reported in Latin America. All three cases had unfavorable outcomes.

Keywords: Lymphohistiocytosis, hemophagocytic; Ferritins; Sarcoidosis, pulmonary; Macrophage activation syndrome.

Sarcoidosis is a systemic disease of unknown etiology, characterized by noncaseating granulomas. Although it may affect any organ, morbidity and mortality are most commonly related to pulmonary involvement, which is found in 80-90% of patients. This study illustrates the principal manifestations of sarcoidosis seen in high-resolution computed tomography scans, including typical as well as atypical forms.

Keywords: Sarcoidosis. Lung. High-resolution computed tomography.

A 27-year-old male patient presented with respiratory symptoms, bilateral enlargement of the cervical lymph nodes and enlarged liver. In the imaging studies, bilateral enlargement of the hilar nodes was observed, together with pulmonary infiltrate. The patient was submitted to lung and liver biopsies, which revealed noncaseating granulomas. The clinical, radiological and histopathological findings were consistent with sarcoidosis and lymph node amyloidosis. The combination of sarcoidosis and amyloidosis has rarely been reported.

Keywords: Amyloidosis; Sarcoidosis; Lymph nodes.

Objective: To investigate the significance of cellular immune markers, as well as that of collagen and elastic components of the extracellular matrix, within granulomatous structures in biopsies of patients with pulmonary or extrapulmonary sarcoidosis. Methods: We carried out qualitative and quantitative evaluations of inflammatory cells, collagen fibers, and elastic fibers in granulomatous structures in surgical biopsies of 40 patients with pulmonary and extrapulmonary sarcoidosis using histomorphometry, immunohistochemistry, picrosirius red staining, and Weigert's resorcin-fuchsin staining. Results: The extrapulmonary tissue biopsies presented significantly higher densities of lymphocytes, macrophages, and neutrophils than did the lung tissue biopsies. Pulmonary granulomas showed a significantly higher number of collagen fibers and a lower density of elastic fibers than did extrapulmonary granulomas. The amount of macrophages in the lung samples correlated with FVC (p < 0.05), whereas the amount of CD3+, CD4+, and CD8+ lymphocytes correlated with the FEV1/FVC ratio and VC. There were inverse correlations between TLC and the CD1a+ cell count (p < 0.05), as well as between DLCO and collagen/elastic fiber density (r = −0.90; p = 0.04). Conclusions: Immunophenotyping and remodeling both showed differences between pulmonary and extrapulmonary sarcoidosis in terms of the characteristics of the biopsy samples. These differences correlated with the clinical and spirometric data obtained for the patients, suggesting that two different pathways are involved in the mechanism of antigen clearance, which was more effective in the lungs and lymph nodes.

Keywords: Sarcoidosis; Granulomatous disease, chronic; Extracellular matrix; Immunophenotyping; Respiratory function tests.

We report the case of a 41 year-old black woman who presented a sudden infiltration of old scars of her face. These scars were from a car accident 10 years prior. Histological analysis of a skin biopsy revealed non-caseous granulomas consistent with sarcoidosis, and computed tomography of the thorax revealed enlarged mediastinal lymph nodes. The lesions regressed spontaneously and no treatment was required.

Keywords: Sarcoidosis/complications. Cicatrix/ethiology. Granuloma/complications.

Objective: To determine the frequency of and the factors related to delayed diagnosis of sarcoidosis in Brazil. Methods: We evaluated patients with a biopsy-proven diagnosis of sarcoidosis, using a questionnaire that addressed the following: time since symptom onset and since the first medical visit; and the number and specialty of the physicians visited. We divided the patients by the timeliness of the diagnosis-timely (< 6 months) and delayed ( 6 months)-comparing the two groups in terms of systemic and pulmonary symptoms; extrathoracic involvement; spirometric data; radiological staging; level of education; income; and tuberculosis (diagnosis and treatment). Results: We evaluated 100 patients. The median number of physicians consulted was 3 (range, 1-14). In 11 cases, sarcoidosis was diagnosed at the first visit. In 54, the first physician seen was a general practitioner. The diagnosis of sarcoidosis was timely in 41 patients and delayed in 59. The groups did not differ in terms of gender; race; type of health insurance; level of education; income; respiratory/systemic symptoms; extrathoracic involvement; and radiological staging. In the delayed diagnosis group, FVC was lower (80.3 ± 20.4% vs. 90.5 ± 17.1%; p = 0.010), as was FEV1 (77.3 ± 19.9% vs. 86.4 ± 19.5%; p = 0.024), misdiagnosis with and treatment for tuberculosis ( 3 months) also being more common (24% vs. 7%, p = 0.032, and 20% vs. 0%; p = 0.002, respectively). Conclusions: The diagnosis of sarcoidosis is often delayed, even when the imaging is suggestive of sarcoidosis. Delayed diagnosis is associated with impaired lung function at the time of diagnosis. Many sarcoidosis patients are misdiagnosed with and treated for tuberculosis.

Keywords: Sarcoidosis; Sarcoidosis, pulmonary/diagnosis; Tuberculosis.

Objective: To identify predictive features associated with the course of sarcoidosis at initial evaluation and to develop a predictive score. Methods: This was a retrospective study involving pulmonary sarcoidosis patients, classified as having a self-limited or persistent course of disease, comparing data between the outcomes by univariate analysis. Features related to persistent disease were selected by multivariate analysis and a prognostic score was designed. Results: The sample comprised 200 patients (mean age = 49 years). The median duration of symptoms to diagnosis was 12 months, and delayed diagnosis (> 12 months) was found in 43% of the cases. The most common radiological stage was II; 37% had reduced FVC. Relevant systemic involvement was detected in 37% of the patients. Treatment for tuberculosis was prescribed in 44 patients prior to sarcoidosis diagnosis. Treatment for sarcoidosis was required in 77% of the sample, and the disease course was persistent in 115 cases. Excluding 40 patients with fibrotic disease, prognostic factors to persistent disease were parenchymal involvement, delayed diagnosis, dyspnea, relevant systemic involvement, and reduced FVC. On the basis of the analysis, a 3-letter scoring system (A, B and C) was developed according to the selected factors. The positive predictive values for persistent course for A (= 1 point) and C scores (= 4 points) were 12.5% and 81.8%, respectively. Conclusions: A score can be derived by selected features at initial evaluation, allowing the prediction of outcomes in a significant number of sarcoidosis patients.

Keywords: Sarcoidosis; Prognosis; Chronic disease; Tuberculosis.

Objective: This case study, conducted in the state of Rio Grande do Sul (RS), Brazil, aims to determine the local profile of sarcoidosis, describing patient characteristics, clinical presentation and pulmonary function, as well as analyzing the results of radiological, histopathological and biochemical tests, at the time of diagnosis in a series of sarcoidosis patients. Methods: A retrospective study of 92 patients with sarcoidosis treated on the Pavilhão Pereira Filho (Pereira Filho [Respiratory Diseases] Ward) of the Hospital Santa Casa, in the city of Porto Alegre, RS, between 1990 and 2003. The protocol included the collection of clinical, biochemical, radiological, spirometric and histological data. Results: There was no significant gender-based difference in frequency (men, 42%; women, 58%). Mean age was 41.8 ± 14.1 years, with 87% of patients being between 20 and 60 years old. Caucasians predominated (84%). Most patients (61%) had never smoked, 29% were former smokers, and 10% were current smokers. The majority (33%) of the diagnoses were made in winter. Among the clinical findings, it is of note that 12% were asymptomatic, 18% presented pulmonary symptoms only, 22% presented extrapulmonary symptoms only, and 48% presented pulmonary and extrapulmonary symptoms. Spirometry was performed in 79% of patients at the time of diagnosis. In 45% of those patients, abnormal results were obtained: a restrictive pattern was seen in 23%, an obstructive pattern in 18% and a mixed pattern in 4%. Classification by radiological type revealed that 30% were stage I, 48% were stage II, and 22% were stage III. Conclusion: The findings of this study are quite similar to those of other studies in the literature, particularly those conducted in Europe.

Keywords: Sarcoidosis, pulmonary/diagnosis; Sarcoidosis, pulmonary/pathology; Lung diseases/pathology; Prognosis; Retrospective studies

Objective: To analyze the epidemiological characteristics of sarcoidosis patients in the city of Rio de Janeiro, Brazil. Methods: A descriptive, case-control study involving 100 sarcoidosis patients under outpatient treatment between 2008 and 2010 at the Pedro Ernesto University Hospital, located in the city of Rio de Janeiro, Brazil. The diagnosis of sarcoidosis was based on clinical, radiological, biochemical, and histopathological criteria. Results: There was a predominance of females in the 35-40 year age bracket (range, 7-69 years), who accounted for 65% of the sample, although there was a second peak at approximately 55 years of age. The most common symptom was dyspnea (in 47%), and the most common radiological findings were pulmonary and lymph node involvement (stage II; in 43%), followed by stage III (in 20%), stage I (in 19%), stage 0 (in 15%), and stage IV (in 3%). No pleural effusion or digital clubbing was observed at diagnosis. The tuberculin skin test was negative in 94 patients. Spirometric findings at diagnosis were normal in 61 patients; indicative of obstructive lung disease in 21; and indicative of restrictive lung disease in 18. The most common biopsy sites were the lungs (principally by bronchoscopy) and the skin, the diagnosis being confirmed by biopsy in 56% and 29% of the cases, respectively. Treatment with prednisone was initiated in 75% of the patients and maintained for more than 2 years in 19.7%. Conclusions: This study corroborates the findings of previous studies regarding the epidemiological characteristics of sarcoidosis patients.

Keywords: Sarcoidosis/epidemiology; Sarcoidosis/diagnosis; Sarcoidosis/therapy.